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1. Full Text G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
by Pasternack, Sandra M and Molderings, Gerhard J and Voss, Katrin and Betz, Regina C and Nöthen, Markus M and Aboud, Khalid Al and Lee, Young-Ae and Hillmer, Axel M and Ramirez, Alfredo and Rüschendorf, Franz and Nürnberg, Peter and Franz, Thomas and von Kügelgen, Ivar
Nature genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 329 - 334
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Lysophospholipids - metabolism | Receptors, G-Protein-Coupled - metabolism | Humans | Hypotrichosis - genetics | Cercopithecus aethiops | Phylogeny | Transfection | DNA Mutational Analysis | Base Sequence | Receptors, Purinergic P2 - genetics | Adult | Receptors, G-Protein-Coupled - physiology | Receptors, Purinergic P2 - physiology | Chromosome Mapping | Animals | Models, Biological | Pedigree | Receptors, Purinergic P2 - metabolism | Chromosomes, Human, Pair 13 | Family | Consanguinity | Receptors, G-Protein-Coupled - genetics | Lysophospholipids - physiology | COS Cells | Hair - growth & development | Hair | Complications and side effects | Cell receptors | Gene mutations | Growth | Physiological aspects | Genetic aspects | Research | Proteins | Signal transduction | Genetics | Mutation | Hair loss | Chromosomes | Index Medicus
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2. Full Text Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation
by Huck, Kirsten and Feyen, Oliver and Niehues, Tim and Rüschendorf, Franz and Hübner, Norbert and Laws, Hans-Jürgen and Telieps, Tanja and Knapp, Stefan and Wacker, Hans-Heinrich and Meindl, Alfons and Jumaa, Hassan and Borkhardt, Arndt
The Journal of clinical investigation, ISSN 0021-9738, 05/2009, Volume 119, Issue 5, pp. 1350 - 1358
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Lymph Nodes - pathology | Gene Expression - genetics | Cell Count | Humans | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Male | Antineoplastic Agents - therapeutic use | Lymphoproliferative Disorders - immunology | Protein-Tyrosine Kinases - deficiency | Protein-Tyrosine Kinases - genetics | Protein-Tyrosine Kinases - chemistry | Antibodies - immunology | Female | Epstein-Barr Virus Infections - blood | B-Lymphocytes - pathology | Protein Stability | Child | B-Lymphocytes - metabolism | Antibodies, Monoclonal, Murine-Derived | Epstein-Barr Virus Infections - immunology | Lymphoproliferative Disorders - virology | Models, Molecular | Natural Killer T-Cells - cytology | Rituximab | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | T-Box Domain Proteins - genetics | Homozygote | Pedigree | Antibodies - blood | Epstein-Barr Virus Infections - complications | Mutation, Missense - immunology | Consanguinity | Care and treatment | Interleukin-2 | Lymphoproliferative disorders | Epstein-Barr virus | Genetic aspects | Research | Protein deficiency | Health aspects | Risk factors | Index Medicus | Abridged Index Medicus
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3. Full Text Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
by Heinig, Matthias and Aiaens, Michiel E and Schafer, Sebastian and van Deutekom, Hanneke W. M and Lodder, Elisabeth M and Ware, James S and Schneider, Valentin and Felkin, Leanne E and Creemers, Esther E and Meder, Benjamin and Katus, Hugo A and Rühle, Frank and Stoll, Monika and Cambien, François and Villard, Eric and Charron, Philippe and Varro, Anas and Bishopric, Nanette H and George, Alfred L and Dos Remedios, Cristobal and Moreno-Moral, Aida and Pesce, Francesco and Bauerfeind, Anja and Rüschendorf, Franz and Rintisch, Carola and Petretto, Enrico and Barton, Paul J and Cook, Stuart A and Pinto, Yigal M and Bezzina, Connie R and Hubner, Norbert
GenomeBiology.com, ISSN 1465-6906, 2017, Volume 18, Issue 1, pp. 170 - 170
Heart | Genetics | Dilated cardiomyopathy | EQTL | Gene expression | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Cardiomyopathy, Dilated - genetics | Genome-Wide Association Study | Alternative Splicing | Humans | Middle Aged | Gene Expression Regulation | Transcriptome | Genotype | Male | Genetic Variation | Myocardium - metabolism | Alleles | Adult | Female | Heart Ventricles - metabolism | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Phosphorylation | Transcription | Peptides | Cardiomyopathy | Gene regulation | Genomics | Cardiovascular disease | Genomes | Single-nucleotide polymorphism | Kinases | Proteins | Rodents | Genetic factors | Heart diseases | Heart failure | Phenotypes | Splicing | Principal components analysis | Cardiomyocytes | Genetic diversity | Ribonucleic acid--RNA | Coronary artery disease | Mutation | Variation | Cardiovascular diseases | Index Medicus | Research | eQTL
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4. Full Text Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
by Baumann, Matthias and Giunta, Cecilia and Krabichler, Birgit and Rüschendorf, Franz and Zoppi, Nicoletta and Colombi, Marina and Bittner, Reginald E and Quijano-Roy, Susana and Muntoni, Francesco and Cirak, Sebahattin and Schreiber, Gudrun and Zou, Yaqun and Hu, Ying and Romero, Norma Beatriz and Carlier, Robert Yves and Amberger, Albert and Deutschmann, Andrea and Straub, Volker and Rohrbach, Marianne and Steinmann, Beat and Rostásy, Kevin and Karall, Daniela and Bönnemann, Carsten G and Zschocke, Johannes and Fauth, Christine
American journal of human genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acids - urine | Frameshift Mutation | Endoplasmic Reticulum - genetics | Humans | Middle Aged | Child, Preschool | Male | Protein Folding | Genetic Variation | Hearing Loss - genetics | Extracellular Matrix - genetics | Homozygote | Ehlers-Danlos Syndrome - genetics | Phenotype | cis-trans-Isomerases - genetics | Adolescent | Ehlers-Danlos Syndrome - urine | Female | Heterozygote | Peptidylprolyl Isomerase - genetics | Child | Hearing Loss - urine | Abnormalities, Multiple - genetics | Fibroblasts - metabolism | Connective tissues | Ehlers-Danlos syndrome | Gene mutations | Protein folding | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Isomerization | Proteins | Genetic research | Mutation | Hearing impairment | Medical disorders | Cells | Index Medicus
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5. Full Text PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption
by Decker, Eva and Stellzig-Eisenhauer, Angelika and Fiebig, Britta S and Rau, Christiane and Kress, Wolfram and Saar, Kathrin and Rüschendorf, Franz and Hubner, Norbert and Grimm, Tiemo and Weber, Bernhard H.F
American journal of human genetics, ISSN 0002-9297, 12/2008, Volume 83, Issue 6, pp. 781 - 786
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Male | Genetic Markers | Genes, Recessive | Tooth Eruption - genetics | Chromosomes, Human, Pair 3 | Pedigree | Receptor, Parathyroid Hormone, Type 1 - genetics | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | Genetic Linkage | Genetic markers | Usage | Gene mutations | Parathyroid hormone | Dentition | Influence | Research | Genetic aspects | G proteins | Membrane proteins | Proteins | Genotype & phenotype | Hormones | Gene expression | Teeth | Index Medicus | Report
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6. Full Text Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy
by Marenholz, Ingo and Grosche, Sarah and Kalb, Birgit and Rüschendorf, Franz and Blümchen, Katharina and Schlags, Rupert and Harandi, Neda and Price, Mareike and Hansen, Gesine and Seidenberg, Jürgen and Röblitz, Holger and Yürek, Songül and Tschirner, Sebastian and Hong, Xiumei and Wang, Xiaobin and Homuth, Georg and Schmidt, Carsten O and Nöthen, Markus M and Hübner, Norbert and Niggemann, Bodo and Beyer, Kirsten and Lee, Young-Ae
Nature communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1056 - 10
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Food allergies | Susceptibility | Genomes | Filaggrin | Leukocytes | Gene expression | Loci | Mucous membrane | Esophagus | Immunology | Clusters | Histocompatibility antigen HLA | Genetic factors | Children | Food hypersensitivity | Public health | Chromosome 18 | Immune system | Food | Index Medicus
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7. Full Text ALOHOMORA: a tool for linkage analysis using 10K SNP array data
by Ruschendorf, F and Nurnberg, P
BIOINFORMATICS, ISSN 1367-4803, 05/2005, Volume 21, Issue 9, pp. 2123 - 2125
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Computer Graphics | User-Computer Interface | Algorithms | Genetics, Population - methods | Oligonucleotide Array Sequence Analysis - methods | Chromosome Mapping - methods | Gene Frequency | Humans | Linkage Disequilibrium - genetics | Polymorphism, Single Nucleotide - genetics | Software | DNA Mutational Analysis - methods | Index Medicus
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8. Full Text Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p
by Lee-Kirsch, Min Ae and Gong, Maolian and Schulz, Herbert and Rüschendorf, Franz and Stein, Annette and Pfeiffer, Christiane and Ballarini, Annalisa and Gahr, Manfred and Hubner, Norbert and Linné, Maja
American journal of human genetics, ISSN 0002-9297, 2006, Volume 79, Issue 4, pp. 731 - 737
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Biological and medical sciences | Medical sciences | Skin involvement in other diseases. Miscellaneous. General aspects | Dermatology | Medical genetics | Complement C4 - metabolism | Arthralgia | Humans | Databases, Genetic | Lupus Erythematosus, Cutaneous - immunology | Lupus Erythematosus, Cutaneous - pathology | Genotype | Lupus Erythematosus, Cutaneous - genetics | Male | Chromosome Mapping | Case-Control Studies | Chromosomes, Human, Pair 3 | Genes, Dominant | Adolescent | Lupus Erythematosus, Cutaneous - blood | Family | Female | Polymorphism, Single Nucleotide | Antigen-Antibody Complex - metabolism | Microsatellite Repeats | Acute febrile neutrophilic dermatosis | Genetic aspects | Systemic lupus erythematosus | Research | Single nucleotide polymorphisms | Gene loci | Genealogy | Autoimmune diseases | Chromosomes | Genomics | Genetic linkage | Index Medicus | Report
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9. Full Text Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α
by Brooke, Matthew A and Longhurst, Hilary J and Plagnol, Vincent and Kirkby, Nicholas S and Mitchell, Jane A and Rüschendorf, Franz and Warner, Timothy D and Kelsell, David P and MacDonald, Thomas T
Gut, ISSN 0017-5749, 01/2014, Volume 63, Issue 1, pp. 96 - 104
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Group IV Phospholipases A2 - genetics | Sequence Deletion | Frameshift Mutation | Humans | Male | Case-Control Studies | Group IV Phospholipases A2 - metabolism | Adult | Female | Peptic Ulcer - enzymology | Siblings | Biomarkers - metabolism | Intestinal Obstruction - etiology | Peptic Ulcer - complications | Enteritis - genetics | Codon, Nonsense | Genetic Markers | Sequence Analysis, DNA | Blotting, Western | Homozygote | Peptic Ulcer - genetics | Enteritis - enzymology | Enteritis - complications | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide | Causes of | Enteritis | Genetic aspects | Research | Gene mutations | Index Medicus | Abridged Index Medicus
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